Changing the Future of Cystic Fibrosis, from Colorado to Bangladesh

New Hope for Cystic Fibrosis

Charlie Meserve, 10, ponders his next chess move on Children's 9th floor. Meserve is a clinical trials participant and Dr. Accurso's patient.

"It takes hours a day to live with cystic fibrosis," said Frank Accurso, MD, professor of pediatrics, pulmonology section head, and medical director of the core laboratory at Children's Clinical Translational Research Center. "Patients carry a tremendous burden of care."

On a daily basis, a cystic fibrosis (CF) sufferer, like Charlie Meserve, may take up to 15 pills and invest at least one hour for secretion clearance; patients with severe CF may ingest up to 60 pills and undergo two and a half hours of secretion clearance treatment.

Due to abnormalities in the protein CFTR (cystic fibrosis transmembrane conductance regulator), CF sufferers cannot normally clear their airways of mucus when they acquire an infection. This leads to breathing challenges, prolongs the infection and results in serious illness. When first defined in 1938, children with CF seldom lived beyond infancy, as they had no medication or treatment.

Lung infections cause most CF patients to spend at least one week a year in the hospital - usually right before finals, the big game, or prom - for intense secretion clearance, intravenous antibiotics, and nebulizer therapy.

Building on progress: even more hope for CF patients

Since 1980 median life expectancy has increased from 18 to 37 years, thanks to the advent of inhaled antibiotics, mucus-thinning medication, newborn screening and CF centers - like the one at Children's.

Now there is further hope for CF patients, as a new drug released by Vertex Pharmaceuticals may significantly improve the function of CFTR in 90% of patients. As trustee and medical advisory council chair of the Cystic Fibrosis Foundation, Dr. Accurso led the clinical investigation on behalf of Children's and the Cystic Fibrosis Foundation in a venture philanthropy project. Because of the new drug, CF patients may experience improved lung function.

In a separate research initiative funded by the Cystic Fibrosis Foundation and the Colorado Clinical Translational Sciences Institute, Dr. Accurso and his colleagues Edith Zemanick, MD, Kirk Harris, PhD, and Norm Pace spent the last five years in a micro-biome investigation, researching the interplay of DNA signatures and bacteria growth. In a remarkable breakthrough, Dr. Accurso and his colleagues discovered a never-before-found bacterium only in CF patients.

With this additional CF characteristic, Dr. Accurso and his colleagues can more precisely target patients' infections with new combinations of antibiotics, resulting in less airway damage.

"It will have implications for many lung diseases in children," said Dr. Accurso, including pneumonia, interstitial lung disease and asthma. "We hope that we can decrease frequency of hospitalizations by using better antibiotic treatments."

Research findings help kids at Children's and across the globe

The significance of Dr. Accurso's findings is unparalleled and will bring optimistic futures to CF patients like Charlie - at Children's Hospital Colorado, across the nation and throughout the world.

As director of the Mike McMorris Cystic Fibrosis Research and Care Center at Children's Hospital Colorado, Dr. Accurso's work has significantly impacted the lives of children, although his humble disposition and friendly demeanor reveal little of his profound accomplishments.

Initially entering the field of CF because he was "pretty good at pulmonary physiology," Dr. Accurso felt excited by the challenge of researching a complex disease with no cure. He quickly made a name for himself in CF and is now regarded as one of the world's leading experts.

Newborn screening improves CF diagnosis and treatment

In one of his most recognized accomplishments, Dr. Accurso helped institute nation-wide CF newborn screening, which significantly advanced diagnosis and treatment; 2009 marked the completion of a national effort in newborn screening. According to the Cystic Fibrosis Foundation, Colorado was the first state to adopt the policy in 1982; the last state implemented it in 2009.

Newborn testing aims to identify a chemical in the blood found only in CF patients. If found, the physician can genotype the patient, as CF is hereditary and only 15 percent of patients present symptoms at birth.

By identifying those newborns with CF, physicians can intervene with nutritional treatment that addresses deficiencies in vitamins A, D, E, K, and salt that inhibit growth and lung function that may otherwise go unnoticed before causing irreversible damage.

Children's CF Center attracts patients from all over the country. The center treats more than 500 CF patients, and Dr. Accurso even consults a patient from Bangladesh whose mother "is moving heaven and earth" to help him.

The research efforts and clinical care of Dr. Accurso and his colleagues at Children's will undoubtedly deliver positive results to children suffering from CF. Perhaps they may even see the day when CF's "tremendous burden of care" is no more. When that day comes, there's a good chance Dr. Accurso and his Children's team will be there.